Prof. Antonarakis is also Director of the Department of Genetic Medicine and Development at the University of Geneva (UNIGE) Faculty of Medicine, Director of the iGE3 institute of Genetics and Genomics, and President of the Human Genome Organization.
Under the agreement, Prof. Antonarakis’ team will apply Saphetor’s precision medicine platform for clinical use. HUG has chosen to install Saphetor’s software and data solution in-house.
Prof. Antonarakis’s team is recognized worldwide as one of the leading clinical research groups in genetic medicine. The integration of Saphetor’s cutting-edge NGS analysis capabilities into their daily clinical routine will allow his group to accelerate and expand its efforts in diagnosing and studying genetic diseases.
As one of the largest academic hospitals in Switzerland, HUG is investing in scaling up its services in personalized medicine and make it accessible to all patients.
Prof. Antonarakis said: “In our Genome Clinic we handle an ever increasing number of cases that require processing of enormous amounts of high throughput sequencing data to discover pathogenic variants in hereditary disorders and cancer.
Saphetor’s sophisticated algorithms mine billions of data points and present the result in an easy to navigate interface that assists us to reliably and accurately diagnose and treat patients.”
Andreas Massouras, CEO of Saphetor, said: “Prof. Antonarakis is without a doubt one of the foremost experts in genetic medicine, and has been making major contributions to its application in clinical practice.
“We are honored by his confidence in Saphetor’s ability to further the aims of the highly innovative Genome Clinic in diagnosing complex disorders and proposing novel treatment strategies to patients in Switzerland and abroad.”
Saphetor develops software and sophisticated analytical processes to identify genetic variants with greater accuracy and to give its clients access to seamlessly integrated data from a rapidly growing collection of genetic databases.
To date, Saphetor has already aggregated more than 18 billion genetic variant annotations from a wide range of databases. Saphetor’s competitive advantage is its unique ability to combine data integration with annotation and interpretation in an interface that is intuitive and easy to navigate.
